Variant Results

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Results for "SAFB"

Variant Events: 8

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported
SAFB	3-0456-000	chr19: 5647162-5647162	A	G	intronic		De novo					-	-	Yuen2016 G Yuen2017 G
SAFB	11303.p1	chr19: 5657356-5657356	T	C	exonic		De novo	synonymous SNV	NM_001201340 NM_001201338 NM_001201339 NM_002967	c.T1653C c.T1860C c.T1860C c.T1860C	p.H551H p.H620H p.H620H p.H620H	-	-	Iossifov2014 E Kosmicki2017 E Krupp2017 E O’Roak2012b E Satterstrom2020 E
SAFB	AU038203	chr19: 5650217-5650217	C	T	intronic		De novo					-	-	Yuen2017 G
SAFB	AU3725302	chr19: 5654101-5654101	G	A	exonic		De novo	nonsynonymous SNV	NM_001201340 NM_001201338 NM_001201339 NM_002967	c.G1349A c.G1556A c.G1556A c.G1556A	p.C450Y p.C519Y p.C519Y p.C519Y	4.347	-	Yuen2017 G
SAFB	2-0299-003	chr19: 5651527-5651527	T	C	intronic		De novo					-	-	Yuen2017 G
SAFB	AU074403	chr19: 5670014-5670014	G	A	intergenic		De novo					-	-	Yuen2017 G
SAFB	3-0439-000	chr19: 5650367-5650367	A	G	intronic		De novo					-	-	Yuen2016 G
SAFB	3-0456-000B	chr19: 5647162-5647162	A	G	intronic		De novo					-	-	Yuen2017 G

Source Variant Information

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Paper Information

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Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
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